IOSR Journal of Dental and Medical Sciences (IOSR-JDMS) e-ISSN: 2279-0853, p-ISSN: 2279-0861.Volume 19, Issue 3 Ser.8 (March. 2020), PP 23-27 www.iosrjournals.org DOI: 10.9790/0853-1903082327 www.iosrjournal 23 | Page Evaluation of E148Q phenotype in patients with familial Mediterranean fever: a Moroccan case series Mohamed Ahakoud 1 , Hanane Sayel 1 , Oussama Kettani 1 , Tarik Sqalli Houssaini 2,4 , MouniaLakhdar Idrissi 3,4 , Fatima Zohra Souilmi 3,4 , Laila Bouguenouch 1,2 , Karim Ouldim 1,2 Central Medical Genetics Unit, Hassan II University Hospital, Fez, Morocco 1 nephrology department, Hassan II University Hospital, Fez, Morocco 2 pediatrics department, Hassan II University Hospital, Fez, Morocco 3 Faculty of Medicine and Pharmacy of Fez, Sidi Mohamed Ben Abdellah University, Fez, Morocco 4 Abstract: Background:Mediterranean fever (FMF) is an autosomal recessive disease, characterized by recurrent short attacks of fever accompanied by abdominal pain, arthritis and pleuritis. It frequently occurs within Mediterranean populations, especially Armenians, Turks, Sephardic Jews and Arabs. The gene responsible for the FMF (MEFV), is located on 16p13.3 and it encodes a protein called pyrine. Objective: To evaluate the phenotypic features of the patients with E148Q mutation. Subjects: The MEFV gene of 5 patients is analyzed. 4 patients were found to be heterozygous for E148Q, and one compound heterozygous for E148Q. Results: All of the five patients were symptomatic at the time of evaluation, fever was seen in 100% of patients, abdominal pain in 60% of the patients, arthralgia in 40%, arthritis in 20%. None of our patients had amyloidosis or a family history of amyloidosis. All the patients have a colchicine response. Conclusions: Patients for E148Q have a heterogeneous clinical presentation. all are symptomatic and colchicine treatment is required in these patients. Key Word: Familial Mediterranean fever, MEFV gene, renal amyloidosis Familial, E148Q --------------------------------------------------------------------------------------------------------------------------------------- Date of Submission: 01-03-2020 Date of Acceptance: 16-03-2020 --------------------------------------------------------------------------------------------------------------------------------------- I. Introduction FMF (Familial Mediterranean Fever ) is a hereditary disease transmitted as an autosomal recessive manifested by recurrent attacks of fever associated with inflammatory events affecting serous and articulation causing abdominal pain, chest and joints. Its major complication lies in the risk of occurrence of renal amyloidosis[1]. It is part of the disease called hereditary auto-inflammatory. FMF is the most common cause of hereditary recurrent fevers prevalent in individuals living in the Mediterranean region. The most affected are ethnic Armenian, Turkish, Sephardic Jews and Arabs, in which the frequency of the mutation in question is high[2]. The MEFV gene is the gene causing FMF disease, is located on chromosome 16 (16p13.3), and codes for a protein called pyrine[3] (figure 1), which is involved in the inflammatory response and apoptosis[4]. Over 300 MEFV sequence variations have been identified to date[5]. Five main mutations: M680I, M694V, M694I and V726A in exon 10 and E148Q in exon 2, are responsible for more than 85% of FMF cases[6]. The pre-symptomatic diagnosis of FMF is based on a bundle of clinical arguments and anamnestic elements, supported by the molecular study which consists in searching for mutations in the MEFV gene which helps to prevent complications of the disease. Colchicine is the gold standard treatment aimed at controlling inflammatory attacks of FMF and preventing renal amyloidosis[7]. In Morocco this disease remains little known and under-diagnosed, sometimes to the point of kidney complications. In this work we propose to contribute to a better knowledge of the molecular pathology of the MEFV gene within the Central Medical Genetics Unit, Hassan II University Hospital of Fez, in order to evaluate the E148Q phenotype in our population. Our objectives are thus defined in the continuous development of the genetic test for an adequate genetic counseling which is highly necessary for a better treatment of hereditary inflammatory pathologies in Morocco.